title: Screening for Down syndrome using urine hCG free beta-subunit in the second trimester of pregnancy.
abstract: Human chorionic gonadotropin (hCG) free beta-subunit levels were determined in 709 control and 13 Down syndrome urine samples from the second trimester of pregnancy. Results were normalized to urine creatinine concentration and converted to multiples of the unaffected pregnancy medium (MOM). The concentration of free beta-subunit in Down syndrome cases was 3.9 MOM. Seven of 13 Down syndrome pregnancies (54 per cent) had free beta-subunit levels at or above the 95th centile of unaffected pregnancies. Urine free beta-subunit may potentially be useful as a screening test for Down syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, CT 06520, USA. laurence.cole@yale.edu
authors.forename: L A
authors.initials: LA
authors.lastname: Cole
authors.forename: M
authors.initials: M
authors.lastname: Jacobs
authors.forename: T
authors.initials: T
authors.lastname: Isozaki
authors.forename: G E
authors.initials: GE
authors.lastname: Palomaki
authors.forename: R O
authors.initials: RO
authors.lastname: Bahado-Singh
authors.forename: M J
authors.initials: MJ
authors.lastname: Mahoney
mesh_terms: D000328:Adult; D000818:Animals; D000911:Antibodies, Monoclonal / Q000276:immunology; D015415:Biomarkers / Q000652:urine; D016022:Case-Control Studies; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000378:metabolism / Q000652:urine*; D004314:Down Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000652:urine; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000196:embryology / Q000652:urine; D005865:Gestational Age; D006801:Humans; D051379:Mice; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods / Q000706:statistics & numerical data*; D011446:Prospective Studies
chemical_list: D000911:Antibodies, Monoclonal; D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human